Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000359699 Individual ID 00474906 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; hypotonia; moderate developmental delay; no ophthalmologic problems; no hearing loss; no cardiac problems; no respiratory problems; severe constipation; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; early hypotonia; no immunological problems; normal skin; frontal bossing, downslant, small ears; normal hands, normal feet Inheritance Isolated (sporadic) Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-27 14:20:42 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.